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Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy
Journal of Clinical Medicine, 12 (2023), 15; 5060. https://doi.org/10.3390/jcm12155060
Babić, Marija; Banović, Maria; Berečić, Ivana; Banić, Tea; Babić Leko, Mirjana; Ulamec, Monika; Junaković, Alisa; Kopić, Janja; Sertić, Jadranka; Barišić, Nina; Šimić, Goran

Institucijski repozitorij: Dr Med - digitalni repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

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Babić, M., Banović, M., Berečić, I., Banić, T., Babić Leko, M., Ulamec, M. ... Šimić, G. (2023). Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy. Journal of Clinical Medicine, 12. (15). doi: 10.3390/jcm12155060

Babić, Marija, et al. "Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy." Journal of Clinical Medicine, vol. 12, br. 15, 2023. https://doi.org/10.3390/jcm12155060

Babić, Marija, Maria Banović, Ivana Berečić, Tea Banić, Mirjana Babić Leko, Monika Ulamec, Alisa Junaković, et al. "Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy." Journal of Clinical Medicine 12, br. 15 (2023). https://doi.org/10.3390/jcm12155060

Babić, M., et al. (2023) 'Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy', Journal of Clinical Medicine, 12(15). doi: 10.3390/jcm12155060

Babić M, Banović M, Berečić I, Banić T, Babić Leko M, Ulamec M, i sur.. Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy. Journal of Clinical Medicine [Internet]. 01.08.2023. [pristupljeno 06.09.2024.];12(15). doi: 10.3390/jcm12155060

M. Babić, et al., "Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy", Journal of Clinical Medicine, vol. 12, br. 15, Kolovoz 2023. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:001529. [Citirano: 06.09.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:001529
Podaci o radu
Naslov (engleski)Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy
AutorMarija Babić
AutorMaria Banović
AutorIvana Berečić
AutorTea Banić
AutorMirjana Babić Leko
AutorMonika Ulamec
AutorAlisa Junaković
AutorJanja Kopić
AutorJadranka Sertić
AutorNina Barišić
AutorGoran Šimić
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(HRVATSKI INSTITUT ZA ISTRAŽIVANJE MOZGA)
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PATOLOGIJU)
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Neuroznanost
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Patologija
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the SMN1 gene (survival motor neuron). As a backup, the SMN1 gene has the SMN2 gene, which produces only 10% of the functional SMN protein. Nusinersen and risdiplam, the first FDA-approved medications, act as SMN2 pre-mRNA splicing modifiers and enhance the quantity of SMN protein produced by this gene. The emergence of new therapies for SMA has increased the demand for good prognostic and pharmacodynamic (response) biomarkers in SMA. This article discusses current molecular diagnostic, prognostic, and pharmacodynamic biomarkers that could be assessed in SMA patients’ body fluids. Although various proteomic, genetic, and epigenetic biomarkers have been explored in SMA patients, more research is needed to uncover new prognostic and pharmacodynamic biomarkers (or a combination of biomarkers).
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaJournal of Clinical Medicine
Brojčani podacivol. 12, br. 15, 5060
e-ISSN2077-0383
DOIhttps://doi.org/10.3390/jcm12155060
URN:NBNurn:nbn:hr:105:001529
Datum objave publikacije2023-08-01
ProjektŠifra: IP-2019-04-3584
Naziv (hrvatski): Uloga krvno-moždane barijere, urođene imunosti i oligomerizacije tau proteina u patogenezi Alzheimerove bolesti
Naziv (engleski): Role of blood-brain barrier, innate immunity, and tau protein oligomerization in the pathogenesis of Alzheimer's disease
Kratica: ALZ-BBB-INNATETAU
Voditelj: Goran Šimić
Pravna nadležnost: Hrvatska
Financijer: Hrvatska zaklada za znanost
Linija financiranja: Research Projects
ProjektŠifra: KK.01.1.1.01.0007
Naziv (hrvatski): Znanstveni centar izvrsnosti - eksperimentalna i klinička istraživanja hipoksijsko-ishemijskog oštećenja mozga u perinatalnoj i odrasloj dobi
Naziv (engleski): Scientific center of excellence - Experimental and clinical research of hypoxic-ischemic brain damage in perinatal and adulthood
Kratica: ZCI-NEURO
Voditelj: Miloš Judaš
Pravna nadležnost: eu
Financijer: Europska komisija
Linija financiranja: European Regional Development Fund
URL dokumentahttps://www.mdpi.com/2077-0383/12/15/5060
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2024-09-02 08:03:27